Open Journal of Genetics

Vol.8 No.4(2018), Paper ID 89862, 10 pages

DOI:10.4236/ojgen.2018.84008

 

CTNS Molecular Genetics Profile in a Portuguese Cystinosis Population

 

Filipa Ferreira, Inês Leal, David Sousa, Teresa Costa, Conceição Mota, Ana Marta Gomes, Daniela Lopes, Maria do Carmo Macário, Isabel Tavares, Helena Pinto, João Paulo Oliveira, Rita Magriço, Célia Carmona, Sónia Ramos, Raquel Neiva, Ana Marcão, Laura Vilarinho

 

Newborn Screening, Metabolism and Genetics Unit, Human Genetics Department, National Institute of Health Dr Ricardo Jorge, Porto, Portugal
Centro Hospitalar Lisboa Norte, Hospital de Santa Maria, Lisboa, Portugal
Centro Hospitalar Lisboa Norte, Hospital de Santa Maria, Lisboa, Portugal
Centro Hospitalar Universitário do Porto, Porto, Portugal
Centro Hospitalar Universitário do Porto, Porto, Portugal
Centro Hospitalar Vila Nova de Gaia, Espinho, Portugal
Centro Hospitalar Vila Nova de Gaia, Espinho, Portugal
Centro Hospitalar Universitário de Coimbra, CHUC, Coimbra, Portugal
Serviço de Genética Médica, Centro Hospitalar de São João, Porto, Portugal
Serviço de Genética Médica, Centro Hospitalar de São João, Porto, Portugal
Unidade de Genética, Faculdade de Medicina da Universidade do Porto, Porto, Portugal
I3S—Instituto de Investigação e Inovação em Saúde, Porto, Portugal
Serviço de Nefrologia do Hospital Garcia de Orta, Almada, Portugal
Newborn Screening, Metabolism and Genetics Unit, Human Genetics Department, National Institute of Health Dr Ricardo Jorge, Porto, Portugal
Newborn Screening, Metabolism and Genetics Unit, Human Genetics Department, National Institute of Health Dr Ricardo Jorge, Porto, Portugal
Newborn Screening, Metabolism and Genetics Unit, Human Genetics Department, National Institute of Health Dr Ricardo Jorge, Porto, Portugal
Newborn Screening, Metabolism and Genetics Unit, Human Genetics Department, National Institute of Health Dr Ricardo Jorge, Porto, Portugal
Research and Development Unit, Department of Human Genetics, National Institute of Health Dr Ricardo Jorge, Porto, Portugal

 

Copyright © 2018 Filipa Ferreira, Inês Leal, David Sousa, Teresa Costa, Conceição Mota, Ana Marta Gomes, Daniela Lopes, Maria do Carmo Macário, Isabel Tavares, Helena Pinto, João Paulo Oliveira, Rita Magriço, Célia Carmona, Sónia Ramos, Raquel Neiva, Ana Marcão, Laura Vilarinho et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

 

How to Cite this Article


Ferreira, F. , Leal, I. , Sousa, D. , Costa, T. , Mota, C. , Gomes, A. , Lopes, D. , Carmo Macário, M. , Tavares, I. , Pinto, H. , Oliveira, J. , Magriço, R. , Carmona, C. , Ramos, S. , Neiva, R. , Marcão, A. and Vilarinho, L. (2018) CTNS Molecular Genetics Profile in a Portuguese Cystinosis Population. Open Journal of Genetics, 8, 91-100. doi: 10.4236/ojgen.2018.84008.

Copyright © 2018 by authors and Scientific Research Publishing Inc.

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